Polymorphisms in some proinflammatory genes (TNFα and β, IL‐1β, IL‐6, ADAM17) in severe chronic venous disease

• Published in: Journal of the European Academy of Dermatology and Venereology Vol. 37; no. 3; pp. 590 - 597
• Main Authors: Slonková, Veronika, Vašků, Anna, Vašků, Vladimír
• Format: Journal Article
• Language: English
• Published: England 01.03.2023
• Subjects: ADAM17 Protein - genetics; Cardiovascular Diseases - genetics; Chronic Disease; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Interleukin-1beta - genetics; Interleukin-6 - genetics; Lymphotoxin-alpha - genetics; Polymorphism, Single Nucleotide; Tumor Necrosis Factor-alpha - genetics
• ISSN: 0926-9959; 1468-3083; 1468-3083
• DOI: 10.1111/jdv.18770

Background Chronic venous disease (CVD) is a common disorder of lower extremities. Objectives The study was scheduled to investigate the relationship between polymorphisms in major proinflammatory genes TNF α (−238 A/G; −308 A/G), TNF β (NcoI), IL‐1β (+3953 T/C); IL‐6 (−174 G/C; −596 G/C) and ADAM17 (3′TACE) and CVD risk. Genotype–phenotype study was calculated to test possible association between examined genotypes and phenotypes of CVD. Methods Finally, 150 CVD patients and 227 control subjects were enrolled to the study. Genotypes in proinflammatory gene polymorphisms were identified from isolated DNA by PCR method and restriction analysis. Results Significant differences in genotype distribution/allelic frequencies in TNF β gene, IL‐1 β gene and in ADAM17 gene polymorphisms were found between CVD women and control ones. In the genotype–phenotype study, identified genotypes were associated with arterial hypertension (ADAM17, IL‐6‐men), ischaemic heart disease (TNF α and β genes), diabetes mellitus (ADAM17‐women, TNF β‐men), age of CVD onset (TNF α and IL‐6), ulceration (ADAM17), duration of ulceration (ADAM17), ulceration recurrence (ADAM17‐women), home care necessity (TNF α), varices surgery (TNF α), erysipelas development (ADAM17‐men) and tumour development (TNF α). Conclusion Studying of these polymorphisms associations can help us better identify patients at higher risk of developing severe CVD.